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FLASH GENE

Symbol

KRT1

contributors: mct/npt - updated : 04/10/2008

HGNC name	keratin 1
HGNC id	6412

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EHK1 epidermolytic hyperkeratosis 1 IHCM ichthyosis hystrix, Curth-Macklin type PPKS3 keratosis palmoplantar striata III
Location	12q13      Physical location : 53.068.519 - 53.074.191
Synonym name	epidermolytic hyperkeratosis 1
	keratin, type II cytoskeletal 1
	67 kDa cytokeratin
	hair alpha protein
Synonym symbol(s)	ZAPB14, KRT1A, EHK1, CK1, K1

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	type II cytokeratins are clustered in a region of chromosome 12q12-q13
STRUCTURE	5.67 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Physical map

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed KRT1 9 - 2451 66 644 - Schweizer (2006)

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive pharynx         Lymphoid/Immune thymus         Skin/Tegument skin         Urinary bladder

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining epidermis stratum spinosum

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a central rod domain
	four helical domains (1A, 1B, 2A, 2B)
	non alpha helical linkers (L1, 2, 3)
	the homology domains H1 and H2, by variable region (V1, V2) and end sequences (E1, E2)

mono polymer

dimer

HOMOLOGY

Homologene

FAMILY	intermediate filament family
	type II keratin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton,intermed filament

basic FUNCTION

also acting as a binding protein and presentation for kininogens on endothelial cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

dimerizing with KRT10, also with KRT9

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EHK1 , IHCM , PPKS3

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS